第一例患有阿尔斯科格-斯科特综合征患者的面部生殖器发育不良1（FGD1）基因缺失病例。

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

作者信息

Bedoyan Jirair K, Friez Michael J, DuPont Barbara, Ahmad Ayesha

机构信息

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-5718, USA.

出版信息

Eur J Med Genet. 2009 Jul-Aug;52(4):262-4. doi: 10.1016/j.ejmg.2008.12.001. Epub 2008 Dec 16.

DOI:10.1016/j.ejmg.2008.12.001

PMID:19110080

Abstract

Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not yet reported for FGD1 but known to exist for other genes such as MECP2. We report the first case of a boy with clinical features of AAS with deletion of FGD1 gene identified using an oligonucleotide-based X chromosome-specific microarray after attempts to generate amplicons for all of the FGD1 coding exons failed and BAC microarray analysis showed no abnormality.

摘要

具有阿尔斯kog - 斯科特综合征（AAS）临床特征的个体中，面生殖器发育异常1（FGD1）基因内的突变包括错义突变、插入和缺失，这些突变会导致移码和提前终止。全基因缺失和重复代表了FGD1尚未报道的其他突变可能性，但已知在其他基因如MECP2中存在。我们报告了首例具有AAS临床特征的男孩，在尝试扩增所有FGD1编码外显子失败且BAC微阵列分析未显示异常后，使用基于寡核苷酸的X染色体特异性微阵列鉴定出FGD1基因缺失。